NM_000521.4(HEXB):c.449C>A (p.Thr150Asn)
|
rs148268937
|
0.00967
|
NM_000521.4(HEXB):c.1051T>C (p.Leu351=)
|
rs114661695
|
0.00596
|
NM_000521.4(HEXB):c.383T>G (p.Leu128Arg)
|
rs113678356
|
0.00177
|
NM_000521.4(HEXB):c.1082+13C>T
|
rs201428805
|
0.00080
|
NM_000521.4(HEXB):c.1417+11C>T
|
rs146572414
|
0.00062
|
NM_000521.4(HEXB):c.1248G>A (p.Ala416=)
|
rs137915238
|
0.00035
|
NM_000521.4(HEXB):c.1437A>C (p.Gln479His)
|
rs139129900
|
0.00034
|
NM_000521.4(HEXB):c.918G>C (p.Leu306=)
|
rs140607282
|
0.00031
|
NM_000521.4(HEXB):c.1614-14C>A
|
rs201448394
|
0.00019
|
NM_000521.4(HEXB):c.299+7G>C
|
rs371930917
|
0.00017
|
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr)
|
rs140627230
|
0.00016
|
NM_000521.4(HEXB):c.1670A>G (p.Ter557=)
|
rs576145664
|
0.00016
|
NM_000521.4(HEXB):c.558+16A>G
|
rs191028207
|
0.00013
|
NM_000521.4(HEXB):c.1536A>G (p.Arg512=)
|
rs139971120
|
0.00012
|
NM_000521.4(HEXB):c.1589C>G (p.Thr530Arg)
|
rs531151091
|
0.00012
|
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)
|
rs121907984
|
0.00012
|
NM_000521.4(HEXB):c.978G>C (p.Leu326=)
|
rs138261300
|
0.00011
|
NM_000521.4(HEXB):c.1279A>G (p.Ser427Gly)
|
rs749347602
|
0.00008
|
NM_000521.4(HEXB):c.216C>T (p.Leu72=)
|
rs780221860
|
0.00008
|
NM_000521.4(HEXB):c.1269A>G (p.Val423=)
|
rs746407358
|
0.00006
|
NM_000521.4(HEXB):c.1035A>C (p.Pro345=)
|
rs202227927
|
0.00005
|
NM_000521.4(HEXB):c.1251G>A (p.Pro417=)
|
rs144264311
|
0.00005
|
NM_000521.4(HEXB):c.1572C>T (p.Asp524=)
|
rs770560389
|
0.00005
|
NM_000521.4(HEXB):c.1374A>G (p.Gln458=)
|
rs200714672
|
0.00004
|
NM_000521.4(HEXB):c.1508+7G>A
|
rs1016425766
|
0.00004
|
NM_000521.4(HEXB):c.251A>G (p.Asn84Ser)
|
rs200209801
|
0.00004
|
NM_000521.4(HEXB):c.672T>C (p.Asp224=)
|
rs761223179
|
0.00004
|
NM_000521.4(HEXB):c.1281C>T (p.Ser427=)
|
rs140443258
|
0.00003
|
NM_000521.4(HEXB):c.1419T>C (p.Gly473=)
|
rs150778823
|
0.00003
|
NM_000521.4(HEXB):c.633A>G (p.Arg211=)
|
rs750864626
|
0.00003
|
NM_000521.4(HEXB):c.657T>C (p.Ile219=)
|
rs141175812
|
0.00003
|
NM_000521.4(HEXB):c.1083-14A>C
|
rs776536464
|
0.00002
|
NM_000521.4(HEXB):c.1418-5T>C
|
rs773772578
|
0.00002
|
NM_000521.4(HEXB):c.174C>T (p.Pro58=)
|
rs769964813
|
0.00002
|
NM_000521.4(HEXB):c.354C>T (p.Phe118=)
|
rs755175110
|
0.00002
|
NM_000521.4(HEXB):c.1041A>G (p.Gln347=)
|
rs755091383
|
0.00001
|
NM_000521.4(HEXB):c.1242+17C>A
|
rs1223566396
|
0.00001
|
NM_000521.4(HEXB):c.1243-8G>A
|
rs776913614
|
0.00001
|
NM_000521.4(HEXB):c.126G>A (p.Ala42=)
|
rs1457481809
|
0.00001
|
NM_000521.4(HEXB):c.138G>T (p.Pro46=)
|
rs1378693652
|
0.00001
|
NM_000521.4(HEXB):c.1482T>C (p.Asp494=)
|
rs1241194558
|
0.00001
|
NM_000521.4(HEXB):c.1539C>A (p.Leu513=)
|
rs1258974496
|
0.00001
|
NM_000521.4(HEXB):c.156G>A (p.Pro52=)
|
rs758965664
|
0.00001
|
NM_000521.4(HEXB):c.1614-10T>C
|
rs1579958155
|
0.00001
|
NM_000521.4(HEXB):c.1614-4A>G
|
rs1182075193
|
0.00001
|
NM_000521.4(HEXB):c.1650T>C (p.Tyr550=)
|
rs1315099188
|
0.00001
|
NM_000521.4(HEXB):c.180G>A (p.Pro60=)
|
rs772089862
|
0.00001
|
NM_000521.4(HEXB):c.189G>A (p.Val63=)
|
rs145144279
|
0.00001
|
NM_000521.4(HEXB):c.210G>T (p.Leu70=)
|
rs552152839
|
0.00001
|
NM_000521.4(HEXB):c.249C>T (p.Pro83=)
|
rs776301441
|
0.00001
|
NM_000521.4(HEXB):c.33G>T (p.Pro11=)
|
rs1207274571
|
0.00001
|
NM_000521.4(HEXB):c.36C>T (p.Pro12=)
|
rs1311449316
|
0.00001
|
NM_000521.4(HEXB):c.471G>A (p.Val157=)
|
rs918729308
|
0.00001
|
NM_000521.4(HEXB):c.486C>A (p.Ala162=)
|
rs1342668095
|
0.00001
|
NM_000521.4(HEXB):c.525T>C (p.Phe175=)
|
rs766197541
|
0.00001
|
NM_000521.4(HEXB):c.654T>C (p.Ile218=)
|
rs1395527567
|
0.00001
|
NM_000521.4(HEXB):c.66G>A (p.Leu22=)
|
rs1355564918
|
0.00001
|
NM_000521.4(HEXB):c.69G>T (p.Leu23=)
|
rs1453045657
|
0.00001
|
NM_000521.4(HEXB):c.723C>T (p.Asp241=)
|
rs779260926
|
0.00001
|
NM_000521.4(HEXB):c.738T>C (p.Tyr246=)
|
rs777853621
|
0.00001
|
NM_000521.4(HEXB):c.855C>A (p.Val285=)
|
rs781190762
|
0.00001
|
NM_000521.4(HEXB):c.873C>T (p.Thr291=)
|
rs778593630
|
0.00001
|
NM_000521.4(HEXB):c.888A>G (p.Leu296=)
|
rs1186019854
|
0.00001
|
NM_000521.4(HEXB):c.902-5T>G
|
rs201521887
|
0.00001
|
NM_000521.4(HEXB):c.1005A>G (p.Thr335=)
|
|
|
NM_000521.4(HEXB):c.1026G>A (p.Glu342=)
|
rs2112175234
|
|
NM_000521.4(HEXB):c.1027G>C (p.Val343Leu)
|
rs774657424
|
|
NM_000521.4(HEXB):c.1029G>A (p.Val343=)
|
rs767987520
|
|
NM_000521.4(HEXB):c.1029G>C (p.Val343=)
|
rs767987520
|
|
NM_000521.4(HEXB):c.102G>T (p.Ala34=)
|
|
|
NM_000521.4(HEXB):c.1050T>C (p.His350=)
|
|
|
NM_000521.4(HEXB):c.1062T>C (p.Asp354=)
|
rs1749653155
|
|
NM_000521.4(HEXB):c.1082+12C>T
|
|
|
NM_000521.4(HEXB):c.1082+13C>A
|
|
|
NM_000521.4(HEXB):c.1082+20C>G
|
|
|
NM_000521.4(HEXB):c.1082+7T>A
|
rs1249872768
|
|
NM_000521.4(HEXB):c.1082+7T>C
|
|
|
NM_000521.4(HEXB):c.1083-10T>A
|
rs2112176963
|
|
NM_000521.4(HEXB):c.1083-12T>G
|
|
|
NM_000521.4(HEXB):c.1083-15C>A
|
|
|
NM_000521.4(HEXB):c.1083-6C>G
|
|
|
NM_000521.4(HEXB):c.1086A>G (p.Glu362=)
|
rs2112176992
|
|
NM_000521.4(HEXB):c.108G>A (p.Val36=)
|
rs1275258823
|
|
NM_000521.4(HEXB):c.1101T>C (p.Ile367=)
|
rs1749677760
|
|
NM_000521.4(HEXB):c.1107T>C (p.Asp369=)
|
|
|
NM_000521.4(HEXB):c.1125C>T (p.Gly375=)
|
|
|
NM_000521.4(HEXB):c.1134A>G (p.Thr378=)
|
|
|
NM_000521.4(HEXB):c.1149A>G (p.Leu383=)
|
rs1336014813
|
|
NM_000521.4(HEXB):c.114G>A (p.Gln38=)
|
|
|
NM_000521.4(HEXB):c.1155T>C (p.Ser385=)
|
|
|
NM_000521.4(HEXB):c.1158C>T (p.Phe386=)
|
|
|
NM_000521.4(HEXB):c.1161C>T (p.Tyr387=)
|
rs2112177152
|
|
NM_000521.4(HEXB):c.1169+18C>T
|
|
|
NM_000521.4(HEXB):c.1169+8G>A
|
|
|
NM_000521.4(HEXB):c.1169+8G>T
|
rs778530133
|
|
NM_000521.4(HEXB):c.1170-10G>A
|
|
|
NM_000521.4(HEXB):c.1170-11T>C
|
|
|
NM_000521.4(HEXB):c.1170-11T>G
|
|
|
NM_000521.4(HEXB):c.1170-12T>G
|
|
|
NM_000521.4(HEXB):c.1170-16T>A
|
|
|
NM_000521.4(HEXB):c.1170-16T>G
|
|
|
NM_000521.4(HEXB):c.1170-17T>A
|
|
|
NM_000521.4(HEXB):c.1170-18A>C
|
|
|
NM_000521.4(HEXB):c.1170-18A>T
|
|
|
NM_000521.4(HEXB):c.1170-4C>T
|
rs2112179635
|
|
NM_000521.4(HEXB):c.1170-5A>C
|
|
|
NM_000521.4(HEXB):c.1170-6T>C
|
rs2112179633
|
|
NM_000521.4(HEXB):c.1170-9T>A
|
|
|
NM_000521.4(HEXB):c.117G>T (p.Val39=)
|
|
|
NM_000521.4(HEXB):c.1191C>T (p.Thr397=)
|
|
|
NM_000521.4(HEXB):c.120G>A (p.Ala40=)
|
|
|
NM_000521.4(HEXB):c.1242+10G>A
|
|
|
NM_000521.4(HEXB):c.1242+18T>C
|
|
|
NM_000521.4(HEXB):c.1242+9dup
|
|
|
NM_000521.4(HEXB):c.1243-15T>C
|
|
|
NM_000521.4(HEXB):c.1243-18A>C
|
|
|
NM_000521.4(HEXB):c.1243-20G>A
|
|
|
NM_000521.4(HEXB):c.1243-9C>T
|
rs771008510
|
|
NM_000521.4(HEXB):c.1251G>C (p.Pro417=)
|
|
|
NM_000521.4(HEXB):c.1251G>T (p.Pro417=)
|
rs144264311
|
|
NM_000521.4(HEXB):c.1263T>G (p.Val421=)
|
rs1454392093
|
|
NM_000521.4(HEXB):c.126G>T (p.Ala42=)
|
rs1457481809
|
|
NM_000521.4(HEXB):c.1275A>G (p.Lys425=)
|
rs2112180604
|
|
NM_000521.4(HEXB):c.1284A>G (p.Ala428=)
|
|
|
NM_000521.4(HEXB):c.1296A>G (p.Glu432=)
|
rs1456292951
|
|
NM_000521.4(HEXB):c.12C>T (p.Cys4=)
|
rs2112122203
|
|
NM_000521.4(HEXB):c.1314A>G (p.Ala438=)
|
|
|
NM_000521.4(HEXB):c.1320C>G (p.Gly440=)
|
rs976848045
|
|
NM_000521.4(HEXB):c.1320C>T (p.Gly440=)
|
|
|
NM_000521.4(HEXB):c.1335T>G (p.Leu445=)
|
|
|
NM_000521.4(HEXB):c.1350C>T (p.Tyr450=)
|
|
|
NM_000521.4(HEXB):c.135C>T (p.Ala45=)
|
rs1748837958
|
|
NM_000521.4(HEXB):c.1362T>A (p.Ile454=)
|
rs552896059
|
|
NM_000521.4(HEXB):c.1365C>T (p.Ser455=)
|
|
|
NM_000521.4(HEXB):c.1377T>C (p.Asp459=)
|
|
|
NM_000521.4(HEXB):c.138G>A (p.Pro46=)
|
rs1378693652
|
|
NM_000521.4(HEXB):c.1398G>A (p.Val466=)
|
|
|
NM_000521.4(HEXB):c.1417+19C>T
|
|
|
NM_000521.4(HEXB):c.1417+9A>G
|
rs755763718
|
|
NM_000521.4(HEXB):c.1418-11T>C
|
|
|
NM_000521.4(HEXB):c.1418-13G>T
|
|
|
NM_000521.4(HEXB):c.1418-15A>G
|
|
|
NM_000521.4(HEXB):c.1418-15A>T
|
|
|
NM_000521.4(HEXB):c.1418-16A>G
|
|
|
NM_000521.4(HEXB):c.1418-18_1418-14del
|
|
|
NM_000521.4(HEXB):c.1418-21_1418-19del
|
|
|
NM_000521.4(HEXB):c.1437A>G (p.Gln479=)
|
rs139129900
|
|
NM_000521.4(HEXB):c.1464A>G (p.Leu488=)
|
|
|
NM_000521.4(HEXB):c.1473A>G (p.Glu491=)
|
|
|
NM_000521.4(HEXB):c.1476T>C (p.Tyr492=)
|
|
|
NM_000521.4(HEXB):c.1479G>A (p.Val493=)
|
|
|
NM_000521.4(HEXB):c.147G>A (p.Ser49=)
|
|
|
NM_000521.4(HEXB):c.147G>C (p.Ser49=)
|
|
|
NM_000521.4(HEXB):c.1494C>G (p.Leu498=)
|
rs149960235
|
|
NM_000521.4(HEXB):c.1494C>T (p.Leu498=)
|
rs149960235
|
|
NM_000521.4(HEXB):c.1500A>G (p.Pro500=)
|
rs2112185426
|
|
NM_000521.4(HEXB):c.1508+11T>C
|
|
|
NM_000521.4(HEXB):c.1508+12A>G
|
|
|
NM_000521.4(HEXB):c.1508+15T>C
|
|
|
NM_000521.4(HEXB):c.1508+18T>C
|
|
|
NM_000521.4(HEXB):c.1509-10T>C
|
|
|
NM_000521.4(HEXB):c.1509-12T>A
|
|
|
NM_000521.4(HEXB):c.1509-12T>C
|
|
|
NM_000521.4(HEXB):c.1509-15T>C
|
|
|
NM_000521.4(HEXB):c.1509-18G>A
|
|
|
NM_000521.4(HEXB):c.1509-20A>T
|
|
|
NM_000521.4(HEXB):c.1509-21_1509-13del
|
|
|
NM_000521.4(HEXB):c.1509-21del
|
rs747523020
|
|
NM_000521.4(HEXB):c.1509-26G>C
|
rs201580118
|
|
NM_000521.4(HEXB):c.1509-4T>C
|
rs2112185863
|
|
NM_000521.4(HEXB):c.1509-7A>T
|
rs2112185850
|
|
NM_000521.4(HEXB):c.1509-7dup
|
rs1749809709
|
|
NM_000521.4(HEXB):c.1509-8A>T
|
|
|
NM_000521.4(HEXB):c.150C>T (p.Ala50=)
|
rs779421706
|
|
NM_000521.4(HEXB):c.1512T>C (p.Pro504=)
|
rs1469774539
|
|
NM_000521.4(HEXB):c.1518A>C (p.Ala506=)
|
|
|
NM_000521.4(HEXB):c.1534A>C (p.Arg512=)
|
|
|
NM_000521.4(HEXB):c.1539C>T (p.Leu513=)
|
rs1258974496
|
|
NM_000521.4(HEXB):c.1560A>G (p.Arg520=)
|
rs1184573477
|
|
NM_000521.4(HEXB):c.1563T>C (p.Asp521=)
|
rs2112186134
|
|
NM_000521.4(HEXB):c.1569T>C (p.Asp523=)
|
|
|
NM_000521.4(HEXB):c.1575C>T (p.Ala525=)
|
|
|
NM_000521.4(HEXB):c.1581C>T (p.Asp527=)
|
|
|
NM_000521.4(HEXB):c.1593G>A (p.Arg531=)
|
|
|
NM_000521.4(HEXB):c.159G>A (p.Gly53=)
|
rs1428463982
|
|
NM_000521.4(HEXB):c.15G>T (p.Gly5=)
|
|
|
NM_000521.4(HEXB):c.1605G>A (p.Arg535=)
|
|
|
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr)
|
rs778119481
|
|
NM_000521.4(HEXB):c.1611C>T (p.Val537=)
|
|
|
NM_000521.4(HEXB):c.1613+10del
|
rs2112186585
|
|
NM_000521.4(HEXB):c.1613+11T>G
|
|
|
NM_000521.4(HEXB):c.1613+13_1613+15del
|
|
|
NM_000521.4(HEXB):c.1613+14T>A
|
|
|
NM_000521.4(HEXB):c.1613+14del
|
rs754704434
|
|
NM_000521.4(HEXB):c.1613+15_1613+16dup
|
|
|
NM_000521.4(HEXB):c.1613+15_1613+19dup
|
|
|
NM_000521.4(HEXB):c.1613+17G>T
|
|
|
NM_000521.4(HEXB):c.1613+19C>G
|
|
|
NM_000521.4(HEXB):c.1613+19C>T
|
|
|
NM_000521.4(HEXB):c.1613+6_1613+21dup
|
rs2112186573
|
|
NM_000521.4(HEXB):c.1613+7_1613+21dup
|
|
|
NM_000521.4(HEXB):c.1613+8A>C
|
|
|
NM_000521.4(HEXB):c.1614-19_1614-18del
|
|
|
NM_000521.4(HEXB):c.1614-6C>T
|
|
|
NM_000521.4(HEXB):c.1614-7dup
|
rs2112188857
|
|
NM_000521.4(HEXB):c.1614-8A>G
|
rs745567727
|
|
NM_000521.4(HEXB):c.1614-9T>C
|
|
|
NM_000521.4(HEXB):c.1617T>A (p.Arg539=)
|
|
|
NM_000521.4(HEXB):c.1626T>C (p.Ala542=)
|
|
|
NM_000521.4(HEXB):c.1629A>G (p.Ala543=)
|
|
|
NM_000521.4(HEXB):c.1635T>G (p.Pro545=)
|
|
|
NM_000521.4(HEXB):c.1641T>C (p.Tyr547=)
|
rs2112189098
|
|
NM_000521.4(HEXB):c.164C>T (p.Ala55Val)
|
|
|
NM_000521.4(HEXB):c.1653T>C (p.Cys551=)
|
|
|
NM_000521.4(HEXB):c.165G>T (p.Ala55=)
|
|
|
NM_000521.4(HEXB):c.166C>T (p.Leu56=)
|
|
|
NM_000521.4(HEXB):c.1671A>G (p.Ter557=)
|
|
|
NM_000521.4(HEXB):c.16C>T (p.Leu6=)
|
rs1580376985
|
|
NM_000521.4(HEXB):c.181C>T (p.Leu61Phe)
|
|
|
NM_000521.4(HEXB):c.201G>A (p.Pro67=)
|
rs371914695
|
|
NM_000521.4(HEXB):c.219C>A (p.Ala73=)
|
|
|
NM_000521.4(HEXB):c.219C>G (p.Ala73=)
|
rs771754401
|
|
NM_000521.4(HEXB):c.21G>A (p.Gly7=)
|
|
|
NM_000521.4(HEXB):c.231C>T (p.Phe77=)
|
|
|
NM_000521.4(HEXB):c.234C>T (p.Tyr78=)
|
|
|
NM_000521.4(HEXB):c.240C>T (p.Ser80=)
|
rs2112123022
|
|
NM_000521.4(HEXB):c.255C>T (p.Ser85=)
|
|
|
NM_000521.4(HEXB):c.261G>A (p.Ala87=)
|
|
|
NM_000521.4(HEXB):c.264C>A (p.Gly88=)
|
|
|
NM_000521.4(HEXB):c.264C>G (p.Gly88=)
|
|
|
NM_000521.4(HEXB):c.267C>T (p.Pro89=)
|
|
|
NM_000521.4(HEXB):c.276C>A (p.Thr92=)
|
rs140509633
|
|
NM_000521.4(HEXB):c.282G>A (p.Leu94=)
|
|
|
NM_000521.4(HEXB):c.299+12C>T
|
|
|
NM_000521.4(HEXB):c.299+14G>A
|
|
|
NM_000521.4(HEXB):c.299+15_299+23del
|
|
|
NM_000521.4(HEXB):c.299+17C>A
|
|
|
NM_000521.4(HEXB):c.299+17C>G
|
|
|
NM_000521.4(HEXB):c.299+18G>T
|
|
|
NM_000521.4(HEXB):c.299+19G>A
|
|
|
NM_000521.4(HEXB):c.300-18C>T
|
|
|
NM_000521.4(HEXB):c.300-20T>C
|
|
|
NM_000521.4(HEXB):c.300-4dup
|
|
|
NM_000521.4(HEXB):c.300-6A>G
|
|
|
NM_000521.4(HEXB):c.300-7C>T
|
rs2112129012
|
|
NM_000521.4(HEXB):c.303T>C (p.Tyr101=)
|
rs768307371
|
|
NM_000521.4(HEXB):c.306T>C (p.His102=)
|
|
|
NM_000521.4(HEXB):c.321T>A (p.Gly107=)
|
|
|
NM_000521.4(HEXB):c.339T>C (p.His113=)
|
rs1748944024
|
|
NM_000521.4(HEXB):c.345T>C (p.Pro115=)
|
rs1467307393
|
|
NM_000521.4(HEXB):c.378A>G (p.Gln126=)
|
rs2112129226
|
|
NM_000521.4(HEXB):c.381T>C (p.Leu127=)
|
rs2112129230
|
|
NM_000521.4(HEXB):c.387C>G (p.Val129=)
|
|
|
NM_000521.4(HEXB):c.390A>C (p.Ser130=)
|
rs1748945386
|
|
NM_000521.4(HEXB):c.408G>A (p.Glu136=)
|
|
|
NM_000521.4(HEXB):c.42G>A (p.Leu14=)
|
rs1580377030
|
|
NM_000521.4(HEXB):c.42G>C (p.Leu14=)
|
rs1580377030
|
|
NM_000521.4(HEXB):c.42G>T (p.Leu14=)
|
rs1580377030
|
|
NM_000521.4(HEXB):c.441G>A (p.Glu147=)
|
|
|
NM_000521.4(HEXB):c.445+11A>G
|
|
|
NM_000521.4(HEXB):c.445+12T>C
|
|
|
NM_000521.4(HEXB):c.445+12T>G
|
|
|
NM_000521.4(HEXB):c.445+14C>T
|
|
|
NM_000521.4(HEXB):c.445+16A>G
|
|
|
NM_000521.4(HEXB):c.445+7A>G
|
rs2112129385
|
|
NM_000521.4(HEXB):c.445+8C>T
|
|
|
NM_000521.4(HEXB):c.446-12T>C
|
|
|
NM_000521.4(HEXB):c.446-21_446-14del
|
|
|
NM_000521.4(HEXB):c.446-4A>G
|
|
|
NM_000521.4(HEXB):c.446-6A>T
|
rs763290427
|
|
NM_000521.4(HEXB):c.446-7A>G
|
rs775644956
|
|
NM_000521.4(HEXB):c.450T>A (p.Thr150=)
|
rs2112135859
|
|
NM_000521.4(HEXB):c.477C>T (p.Val159=)
|
|
|
NM_000521.4(HEXB):c.495T>C (p.Val165=)
|
|
|
NM_000521.4(HEXB):c.504A>C (p.Ala168=)
|
rs993517054
|
|
NM_000521.4(HEXB):c.511+10A>C
|
rs1172289714
|
|
NM_000521.4(HEXB):c.511+10A>G
|
|
|
NM_000521.4(HEXB):c.511+14A>G
|
|
|
NM_000521.4(HEXB):c.511+16T>G
|
|
|
NM_000521.4(HEXB):c.511+7T>C
|
|
|
NM_000521.4(HEXB):c.512-12T>C
|
|
|
NM_000521.4(HEXB):c.512-18A>G
|
|
|
NM_000521.4(HEXB):c.516A>G (p.Leu172=)
|
|
|
NM_000521.4(HEXB):c.519G>A (p.Glu173=)
|
rs1422448735
|
|
NM_000521.4(HEXB):c.522C>A (p.Thr174=)
|
|
|
NM_000521.4(HEXB):c.52C>T (p.Leu18=)
|
|
|
NM_000521.4(HEXB):c.531G>A (p.Gln177=)
|
rs923395829
|
|
NM_000521.4(HEXB):c.534A>G (p.Leu178=)
|
|
|
NM_000521.4(HEXB):c.552T>C (p.Tyr184=)
|
rs573447174
|
|
NM_000521.4(HEXB):c.558+10A>G
|
|
|
NM_000521.4(HEXB):c.558+16A>T
|
|
|
NM_000521.4(HEXB):c.558+18_558+19del
|
|
|
NM_000521.4(HEXB):c.558+19T>C
|
|
|
NM_000521.4(HEXB):c.558+7A>G
|
|
|
NM_000521.4(HEXB):c.558+7A>T
|
rs1252577576
|
|
NM_000521.4(HEXB):c.559-11T>C
|
|
|
NM_000521.4(HEXB):c.559-18A>G
|
|
|
NM_000521.4(HEXB):c.559-18A>T
|
rs374665376
|
|
NM_000521.4(HEXB):c.559-4A>G
|
rs1417706193
|
|
NM_000521.4(HEXB):c.55T>C (p.Leu19=)
|
rs2112122357
|
|
NM_000521.4(HEXB):c.567C>A (p.Ile189=)
|
rs2112141498
|
|
NM_000521.4(HEXB):c.567C>T (p.Ile189=)
|
rs2112141498
|
|
NM_000521.4(HEXB):c.582T>C (p.Ile194=)
|
rs2112141535
|
|
NM_000521.4(HEXB):c.591T>C (p.Ser197=)
|
|
|
NM_000521.4(HEXB):c.594A>G (p.Pro198=)
|
|
|
NM_000521.4(HEXB):c.597G>A (p.Arg199=)
|
rs1206573829
|
|
NM_000521.4(HEXB):c.60G>A (p.Ala20=)
|
|
|
NM_000521.4(HEXB):c.630C>T (p.Ser210=)
|
|
|
NM_000521.4(HEXB):c.63A>G (p.Thr21=)
|
|
|
NM_000521.4(HEXB):c.64C>T (p.Leu22=)
|
|
|
NM_000521.4(HEXB):c.654T>A (p.Ile218=)
|
rs1395527567
|
|
NM_000521.4(HEXB):c.660T>G (p.Leu220=)
|
rs914649805
|
|
NM_000521.4(HEXB):c.669+10T>C
|
rs2112141738
|
|
NM_000521.4(HEXB):c.669+10T>G
|
rs2112141738
|
|
NM_000521.4(HEXB):c.669+12C>T
|
|
|
NM_000521.4(HEXB):c.669+16A>G
|
|
|
NM_000521.4(HEXB):c.670-10T>C
|
|
|
NM_000521.4(HEXB):c.670-10T>G
|
rs763971063
|
|
NM_000521.4(HEXB):c.670-13T>C
|
|
|
NM_000521.4(HEXB):c.670-14A>T
|
|
|
NM_000521.4(HEXB):c.670-14_670-13del
|
rs886060751
|
|
NM_000521.4(HEXB):c.670-6T>C
|
|
|
NM_000521.4(HEXB):c.670-8G>A
|
rs2112156271
|
|
NM_000521.4(HEXB):c.670-9T>G
|
rs2112156269
|
|
NM_000521.4(HEXB):c.675C>T (p.Ala225=)
|
|
|
NM_000521.4(HEXB):c.699T>C (p.Val233=)
|
|
|
NM_000521.4(HEXB):c.69G>A (p.Leu23=)
|
rs1453045657
|
|
NM_000521.4(HEXB):c.705C>T (p.His235=)
|
rs2112156345
|
|
NM_000521.4(HEXB):c.711C>T (p.His237=)
|
|
|
NM_000521.4(HEXB):c.729T>C (p.Ser243=)
|
|
|
NM_000521.4(HEXB):c.72G>A (p.Ala24=)
|
|
|
NM_000521.4(HEXB):c.735A>T (p.Pro245=)
|
rs758398934
|
|
NM_000521.4(HEXB):c.759G>A (p.Glu253=)
|
|
|
NM_000521.4(HEXB):c.75G>A (p.Ala25=)
|
rs1416490499
|
|
NM_000521.4(HEXB):c.771+10T>C
|
|
|
NM_000521.4(HEXB):c.771+14A>G
|
|
|
NM_000521.4(HEXB):c.771+17G>C
|
|
|
NM_000521.4(HEXB):c.771+20C>G
|
|
|
NM_000521.4(HEXB):c.771+20C>T
|
|
|
NM_000521.4(HEXB):c.771+8A>C
|
|
|
NM_000521.4(HEXB):c.771+9A>G
|
rs768648039
|
|
NM_000521.4(HEXB):c.772-12T>C
|
|
|
NM_000521.4(HEXB):c.772-5T>C
|
rs2112171612
|
|
NM_000521.4(HEXB):c.772-8T>C
|
rs540508015
|
|
NM_000521.4(HEXB):c.79T>C (p.Leu27=)
|
|
|
NM_000521.4(HEXB):c.7C>T (p.Leu3=)
|
|
|
NM_000521.4(HEXB):c.801A>G (p.Thr267=)
|
|
|
NM_000521.4(HEXB):c.810T>C (p.Asp270=)
|
|
|
NM_000521.4(HEXB):c.81G>A (p.Leu27=)
|
|
|
NM_000521.4(HEXB):c.822G>C (p.Val274=)
|
|
|
NM_000521.4(HEXB):c.828A>G (p.Glu276=)
|
|
|
NM_000521.4(HEXB):c.838T>C (p.Leu280=)
|
rs1057518432
|
|
NM_000521.4(HEXB):c.843A>G (p.Arg281=)
|
rs2112171867
|
|
NM_000521.4(HEXB):c.855C>T (p.Val285=)
|
rs781190762
|
|
NM_000521.4(HEXB):c.858G>A (p.Leu286=)
|
rs2112171900
|
|
NM_000521.4(HEXB):c.858G>T (p.Leu286=)
|
|
|
NM_000521.4(HEXB):c.879G>C (p.Gly293=)
|
rs1208134816
|
|
NM_000521.4(HEXB):c.888A>C (p.Leu296=)
|
|
|
NM_000521.4(HEXB):c.901+11G>T
|
|
|
NM_000521.4(HEXB):c.901+7A>C
|
|
|
NM_000521.4(HEXB):c.901+8G>C
|
|
|
NM_000521.4(HEXB):c.902-15A>C
|
|
|
NM_000521.4(HEXB):c.90G>A (p.Leu30=)
|
|
|
NM_000521.4(HEXB):c.924A>C (p.Pro308=)
|
|
|
NM_000521.4(HEXB):c.924A>G (p.Pro308=)
|
rs2112175034
|
|
NM_000521.4(HEXB):c.93T>C (p.Thr31=)
|
rs1748835619
|
|
NM_000521.4(HEXB):c.946T>C (p.Leu316=)
|
|
|
NM_000521.4(HEXB):c.948G>A (p.Leu316=)
|
rs1749649162
|
|
NM_000521.4(HEXB):c.972T>C (p.Pro324=)
|
rs1749650159
|
|
NM_000521.4(HEXB):c.987A>G (p.Thr329=)
|
|
|
NM_000521.4(HEXB):c.993C>T (p.Ser331=)
|
rs2112175174
|
|
NM_000521.4(HEXB):c.9G>T (p.Leu3=)
|
|
|